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Establishment of diagnosis method and analysis of genetic background of adult leukoencephalopathy patients with desktop next-generation sequencer

Research Project

Project/Area Number 25461287
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionYokohama City University

Principal Investigator

Ueda Naohisa  横浜市立大学, 大学病院, 准教授 (00305442)

Co-Investigator(Kenkyū-buntansha) DOI Hiroshi  横浜市立大学, 医学部神経内科, 准教授 (10326035)
TANAKA Fumiaki  横浜市立大学, 医学研究科神経内科, 教授 (30378012)
Co-Investigator(Renkei-kenkyūsha) MATSUMOTO Naomichi  横浜市立大学, 医学研究科遺伝学, 教授 (80325638)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Keywords次世代シーケンサー / カスタムキャプチャー / 白質脳症 / ターゲットキャプチャー
Outline of Final Research Achievements

Leukoencephalopathies comprise all clinical syndromes predominantly affecting the white matter of the brain. We performed capture-based target enrichment followed by next-generation sequencing for the genetic screening of adult leukoencephalopathy patients with unknown causes. We picked up 55 leukoencephalopathy-related genes and designed the bait library with SureSelect technology (Agilent). Genomic DNAs from 60 Japanese adult leukoencephalopathy patients were processed by this library, and the captured DNAs were analyzed by next generation sequencer MiSeq. As results, we detected pathological NOTCH3 mutations in 4 patients, and EIF2B2 and POLR3A mutations in one patient, respectively. Additionally, unreported mutations were detected in some patients. In our study, 10% of adult patients with leukoencephalopathy were definitively diagnosed with known or apparently pathological mutations, and 8.3% of patients had mutations with unconfirmed significance.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (11 results)

All 2015 2014 Other

All Journal Article (5 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 5 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (6 results)

  • [Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015

    • Author(s)
      Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    • Journal Title

      JAMA Neurology

      Volume: 72 Issue: 7 Pages: 797-805

    • DOI

      10.1001/jamaneurol.2015.0610

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation2015

    • Author(s)
      Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
    • Journal Title

      J Hum Genet

      Volume: 60 Issue: 4 Pages: 187-191

    • DOI

      10.1038/jhg.2015.7

    • NAID

      40020433141

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014

    • Author(s)
      Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
    • Journal Title

      Sci Rep

      Volume: 4 Issue: 1 Pages: 7132-7132

    • DOI

      10.1038/srep07132

    • NAID

      120007100602

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration2014

    • Author(s)
      Naohisa Ueda, Yasuhito Hakii, Shigeru Koyano, Yuichi Higashiyama, Hideto Joki, Yasuhisa Baba, Yume Suzuki, Yoshiyuki Kuroiwa, Fumiaki Tanaka
    • Journal Title

      Journal of Neurology

      Volume: 261 Issue: 7 Pages: 1381

    • DOI

      10.1007/s00415-014-7353-4

    • Related Report
      2014 Research-status Report 2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses2014

    • Author(s)
      Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J and Tsuji S
    • Journal Title

      J Hum Genet

      Volume: 59 Issue: 3 Pages: 163

    • DOI

      10.1038/jhg.2013.139

    • NAID

      40020021308

    • Related Report
      2014 Research-status Report 2013 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] HIV感染症のART療法中に感染源不明の白質脳症を伴う免疫再構築症候群をきたした1例2015

    • Author(s)
      三宅綾子ら
    • Organizer
      第33回日本神経治療学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-11-26
    • Related Report
      2015 Annual Research Report
  • [Presentation] 脊髄小脳変性症における運動学習障害の評価2015

    • Author(s)
      上田直久ら
    • Organizer
      第56回日本神経学会学術大会
    • Place of Presentation
      新潟
    • Year and Date
      2015-05-20
    • Related Report
      2015 Annual Research Report
  • [Presentation] 脊髄小脳変性症における運動学習障害の評価2014

    • Author(s)
      上田直久ら
    • Organizer
      第33回 日本認知症学会学術集会
    • Place of Presentation
      パシフィコ横浜会議センター(横浜市西区)
    • Year and Date
      2014-11-29 – 2014-12-01
    • Related Report
      2014 Research-status Report
  • [Presentation] Lewy小体型認知症,および認知症を伴うParkinson病にお  けるMRI上の大脳白質病変の検討.2014

    • Author(s)
      上木英人ら
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡国際会議場(福岡市博多区)
    • Year and Date
      2014-05-21 – 2014-05-24
    • Related Report
      2014 Research-status Report
  • [Presentation] 脊髄小脳変性症における運動学習障害の評価2014

    • Author(s)
      上田直久ら
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡国際会議場(福岡市博多区)
    • Year and Date
      2014-05-21 – 2014-05-24
    • Related Report
      2014 Research-status Report
  • [Presentation] 渦巻き描記を用いた小脳性運動失調の他覚的評価法の検討(第7報)

    • Author(s)
      上田直久,波木井靖人,黒岩義之,田中章景
    • Organizer
      第54回日本神経学会総会
    • Place of Presentation
      国際フォーラム(東京)
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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